A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415800



Internal ID195048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:61096234..61096285hg38UCSC Ensembl
chr14:61562952..61563003hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17695995
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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